rs122458140
A SNP in the FHL1 gene on chromosome X. Its most notable genotype is C;C: Emery-Dreifuss Muscular Dystrophy
- Gene
- FHL1
- Location
- Chr X136,207,825 (GRCh38)
- Highest magnitude
- 6.4Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadEmery-Dreifuss Muscular Dystrophy
- C;GBadCarrier of an Emery-Dreifuss muscular dystrophy mutation
- G;GGoodcommon in clinvar
On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other FHL1 SNPs
- rs122458141G;GEmery-Dreifuss Muscular DystrophyVery important
- rs122458142T;TEmery-Dreifuss Muscular DystrophyVery important
- rs122458143T;TEmery-Dreifuss Muscular DystrophyVery important
- rs122458144C;CEmery-Dreifuss Muscular DystrophyVery important
- rs122458145A;AEmery-Dreifuss Muscular DystrophyVery important
- rs122459146A;AEmery-Dreifuss Muscular DystrophyVery important
- rs122459148G;GEmery-Dreifuss Muscular DystrophyVery important
- rs122459149C;CEmery-Dreifuss Muscular DystrophyVery important
Notes
From SNPedia
Notes
C;G
Unaffected in absence of a second FHL1 gene mutation
Source and license
Adapted from rs122458140 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.